Lista de obras - João Lavinha - Dominio Público Uruguay

A novel mosaic Bantu/Benin/Bantu βs haplotype found in several African populations

artículo científico publicado en 1994

A novel rearrangement of the human fetal globin genes leading to a six γ-globin gene haplotype

article

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

artículo científico publicado en 1995

Comment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'

artículo científico publicado en 2007

Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion

scientific article published on 01 May 2002

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

artículo científico publicado en 1999

Determining oxidative and non-oxidative genotoxic effects driven by estuarine sediment contaminants on a human hepatoma cell line

artículo científico publicado en 2014

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

artículo científico publicado en 2008

Genetic variation in CD36, HBA, NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study

artículo científico publicado en 2013

Heterogeneous ethnic distribution of the 844ins68 in the cystathionine beta-synthase gene

artículo científico publicado en 1998

Human hepatoma cells exposed to estuarine sediment contaminant extracts permitted the differentiation between cytotoxic and pro-mutagenic fractions

artículo científico publicado en 2013

Integrated approach to the in vivo genotoxic effects of a titanium dioxide nanomaterial using LacZ plasmid-based transgenic mice

artículo científico publicado en 2014

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

scholarly article by T Casals et al published 1997 in Human Mutation

Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.

artículo científico publicado en 2004

Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia

artículo científico publicado el 1 de enero de 1992

Sickle cell disease severity scoring: a yet unsolved problem

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.